ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825175848
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514223
ClinVar RCV Id:
RCV001054285
RCV001697928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala3418Val
CA4924731
NM_000445.4:c.10253C>T